Abstract
Inherited CD59 deficiency is a rare autosomal recessive disorder characterized by
chronic hemolysis, recurrent ischemic central nervous system strokes, and early-onset
relapsing peripheral demyelinating neuropathy mimicking recurrent Guillain–Barré syndrome
(GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). We report a 7-year-old
girl who presented with neonatal-onset relapsing weakness accompanied by diffuse sensory-motor
demyelinating peripheral polyneuropathy. She was diagnosed as having a CIDP-like disease
and partially responded to immunomodulatory treatments. Cranial magnetic resonance
imaging showed multiphasic brainstem and cerebellar ischemic lesions consistent with
vasculopathy and chronic left middle cerebral artery infarction. Whole exome sequencing
(WES) analysis revealed a frameshift deletion in CD59 (c.146delA, p.Asp49Valfs*31). Inherited CD59 deficiency should be considered in the
differential diagnosis of patients with early-onset severe neurologic symptoms even
without an overt hemolysis. We would like to highlight the role of WES in the diagnosis
of a condition with a targeted therapy.
Keywords
neonatal onset - recurrent GBS - CD59 deficiency
